M14L (p.Met14Leu) variant of CRBN (Protein cereblon)
M14L (p.Met14Leu) in CRBN (Protein cereblon) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Intellectual disability, autosomal recessive 2; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
M14L (p.Met14Leu) variant details
- p.Met14Leu
- rs753095651
- ExAC rs753095651
- TOPMed rs753095651
- gnomAD rs753095651
- Uncertain significance
- Intellectual disability, autosomal recessive 2; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.283
- REVEL 0.16
- CADD 25.00
- PolyPhen-2 0.46
- SIFT 0.06
- ClinVar: Uncertain significance (Intellectual disability, autosomal recessive 2; Inborn genetic d)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.8e-05)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)